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Article

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Journal of assisted reproduction and genetics - 1 Mar 2025

Van Der Kelen Annelore, Uyttebroeck Sophie, Van de Voorde Stefanie, Picchetta Ludovica, Segers Ingrid, Vlaeminck Jelle, Dequeker Bart Johan H, Giron Philippe, Capalbo Antonio, Verpoest Willem, Hes Frederik J, Verdyck Pieter, Gheldof Alexander

Abstract excerpt

PURPOSE: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis. Loss-of-function variants in NOBOX are reported in 1-2%...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39871066
DOI: 10.1007/s10815-025-03402-y
PMCID: PMC11950555

Genes

NOBOX
BMP15
FSHR
GDF9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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